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Variant (rsID / SNP)

rs35256489

HBB

rs35256489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,246,940. Clinical significance in the table: Pathogenic.

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Reference-table entries

HBBPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:5246940
Cytoband
11p15.4
HGVS
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
Allele change
Missense_L111P

Associated conditions / phenotypes

HEMOGLOBIN SHOWA-YAKUSHIJI|Beta-plus-thalassemia|Beta-Showa-Yakushiji thalassemia|beta Thalassemia|Hb SS disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.